Mouse Models of Aniridia in the MICRON Literature

About the MICRON Research Literature

These research pages organize published studies using MICRON imaging systems by animal species and the disease or condition investigated.

All publication counts and figures reflect the complete indexed research collection.

Explore related studies through the MICRON Research Hubs or search the complete publication collection in the reSEARCH portal.

Understanding Aniridia

Aniridia is a panocular developmental disorder arising from loss of one functional copy of PAX6, a transcription factor required throughout eye development, and it is named for a sign rather than bounded by one: iris hypoplasia or near-absence is what is seen first, while cornea, limbus, lens, drainage angle, fovea and optic nerve are each described as involved.

Vision is affected by the iris defect itself and by two features that develop elsewhere:

• Foveal hypoplasia present from birth, with nystagmus and reduced acuity
• Aniridia-related keratopathy, a progressive loss of corneal clarity with vessel and conjunctival ingrowth that begins in childhood and advances over decades

That keratopathy is described as a consequence of failure of the limbal epithelial stem cell compartment under PAX6 haploinsufficiency, and also as a direct effect of reduced PAX6 dosage on corneal epithelium, stroma, tear film and corneal nerves. How much of it is limbal in origin is unsettled, and on either reading it is a progressive surface disease whose course runs separately from the foveal one.

Aniridia in Experimental Research

A mouse carrying heterozygous Pax6 loss, as in the Small eye allele series, supplies:

• The gene-dosage defect from the same developmental stage
• The anterior-segment and ocular-surface consequences that follow it on a surface that can be examined repeatedly in the living eye
• A host in which gene addition and gene editing directed at restoring PAX6 expression are tested against a defined genotype

What it cannot supply is the foveal half of the disease: the mouse retina has neither macula nor fovea, so foveal hypoplasia, the nystagmus that accompanies it and the acuity endpoint by which sight is judged in people sit outside what a mouse model reproduces, as do the systemic associations that define WAGR syndrome and the decades over which the keratopathy, and the cataract and glaucoma that follow later, accumulate.

Mouse Models of Aniridia

The mouse carries most of this work.

Transgenic and knockout lines allow a pathway to be removed or overexpressed, and cost, availability, short generation time and a large body of background data reinforce the choice.

A genetic manipulation constrains rather than isolates a mechanism: developmental compensation and pleiotropy remain possible.

Published MICRON Research: Aniridia in Mice

This page lists 8 papers from the MICRON literature, published 2020 to 2026, that study aniridia in mice.

Of these publications:

• 8 studies used mice as the primary aniridia disease model.

Scope of the literature collection: Publication counts reflect studies identified and indexed in the MICRON research corpus. This collection is not intended to represent an exhaustive review of all published aniridia research.

Which imaging and experimental techniques are used in these studies?

Technique counts are paper-level co-occurrences and do not necessarily indicate that a technique was applied to the focal species or focal disease model.

Capabilities and Limitations of Imaging Techniques

A summary of what each imaging technique listed above can measure, the information it provides, and its limitations in research applications.

Topical Ophthalmic Drug Delivery

A compound applied as drops to the ocular surface. It is non-invasive and repeatable, so it supports frequent dosing without a procedure for each dose. What the route has to establish depends on the target: for an ocular-surface target, residence time and penetration into the surface tissue are the main barriers; for an intraocular anterior-segment target, the compound must cross ocular-surface and corneal or conjunctival barriers and reach an intraocular concentration sufficient for the experiment; for a posterior-segment target, additional ocular barriers separate the surface from the target and posterior-segment exposure is harder to establish.

CRISPR-Based Ocular Gene Editing

Uses a programmable genome-editing system to alter DNA at an endogenous locus rather than adding a separate replacement copy. Depending on the editor and design, it can disrupt, correct or install a sequence, either therapeutically or to create an experimental model. Once a genomic sequence change is established, the edit itself cannot be withdrawn like a dose; where the edit is present from conception, the resulting phenotype also reflects its effects throughout development. Off-target sequence changes are a separate question that structural imaging does not establish.

Optical Coherence Tomography

Optical coherence tomography provides high-resolution, cross-sectional images of ocular tissues in the living eye, allowing researchers to visualize structures at different depths. OCT is particularly useful for measuring tissue thickness, identifying structural abnormalities, and assessing the location and extent of tissue changes.

As a non-invasive imaging technique, OCT enables repeated measurements in the same eye over time, supporting longitudinal studies of disease progression and treatment response. Although OCT provides detailed structural information, it does not directly measure cellular activity or visual function. Tissue that appears structurally normal may still have functional abnormalities, making OCT a valuable companion to functional assessments such as electroretinography (ERG).

AAV-Mediated Ocular Gene Delivery

An adeno-associated viral vector delivers genetic material to ocular cells, and a single administration can support long-lived transgene expression. That persistence is useful for gene augmentation and sustained therapeutic-protein expression; AAV can also deliver gene-silencing or genome-editing cargo, where long-lived expression of the editing machinery may be unnecessary or undesirable. Capsid and route of delivery jointly determine which cells are reached, so different delivery routes and vector designs give different distributions.

Intravitreal Injection / Delivery

Injection into the vitreous places a substance directly into the vitreous at a known administered dose and chosen time, reducing but not eliminating systemic exposure. The injectate may be a therapeutic compound, cell preparation or viral vector, or an agent used to create the model, such as a toxin, vasoactive or excitotoxic compound, or infectious inoculum. The route bypasses surface-delivery barriers and provides direct access to the vitreous and posterior segment, but the concentration reached in a particular ocular tissue depends on distribution and clearance and is not fixed by the injected dose alone. It is invasive and discrete: each repeat dose or challenge requires another injection, and vehicle- or sham-injected controls can help separate effects of the injectate from effects of the procedure.

Which MICRON systems and add-ons appear?

Which strains and genetic lines are used?

Which other species appear alongside?

What other conditions are recorded on the same papers?

Which MICRON configurations appear in this work?

Configurations recorded in these papers, and the techniques recorded alongside them.

The papers

Browse all hubs at MICRON Research Hubs. The full corpus is searchable in the reSEARCH portal.